A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease

摘要

Sir, Sandhoff disease is an autosomal recessive lysosomal storage disorder. The biochemical defect in Sandhoff disease is a deficiency of p-hexosaminidase activity resulting from a mutation in the HEXB gene, which is located on chromosome 5 and encodes the beta-subunit of the hexosaminidase enzymes. The clinical course of Sandhoff disease varies greatly, ranging from very severe infantile forms to relatively milder adult-onset variants. We report the first Korean case of adult-onset Sandhoff disease, which manifested as motor neuron disease.